Autonomic Status Epilepticus in a Patient with Parasellar Meningioma: A Case Report

Autonomic status epilepticus (Aut SE) is a condition characterized by ongoing focal autonomic seizure lasting for >30 min. Aut SE can show a variety of clinical manifestations including vomiting, nausea, changes in heart rate, piloerection, pupillary abnormalities, and visual abnormalities. Although Aut SE is a common finding in childhood in the context of Panayiotopoulos syndrome, few reports have described this condition during adulthood. In the present report, we describe a case of Aut SE in an adult patient with parasellar meningioma and bilateral frontotemporal epileptiform activity on EEG record.

NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation

GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is the most common causative factor in neuronal intranuclear inclusion disease (NIID) in Asians. Such expanded GGC repeats have been identified in patients with leukoencephalopathy, essential tremor (ET), multiple system atrophy, Parkinson’s disease (PD), amyotrophic lateral sclerosis and oculopharyngodistal myopathy (OPDM). Herein, we review the recently reported NOTCH2NLC-related disorders and potential disease-causing mechanisms. We found that visual abnormalities may be NOTCH2NLC-specific and should be investigated in other patients with NOTCH2NLC mutations. NOTCH2NLC GGC repeat expansion was rarely identified in patients of European ancestry, whereas the actual prevalence of the expansion in European patients may be potentially higher than reported, and the CGG repeats in LRP12/GIPC1 are suggested to be screened in European patients with NIID. The repeat size and interruptions in NOTCH2NLC GGC expansion confer pleiotropic effects on clinical phenotype, a pure and stable ET phenotype may be an early symptom of NIID, and GGC repeats in NOTCH2NLC possibly give rise to ET. An association may also exist between intermediate-length NOTCH2NLC GGC repeat expansion and patients affected by PD and ET. NOTCH2NLC-OPDM highly resembles NOTCH2NLC-NIID, the two disorders may be the variations of a single neurodegenerative disease, and there may be a disease-causing upper limit in size of GGC repeats in NOTCH2NLC, repeats over which may be non-pathogenic. The haploinsufficiency of NOTCH2NLC may not be primarily involved in NOTCH2NLC-related disorders and a toxic gain-of-function mechanism possibly drives the pathogenesis of neurodegeneration in patients with NOTCH2NLC-associated disorders.

Differences in Visuospatial Expertise between Skeet Shooting Athletes and Non-Athletes

Background: Sports vision is a specialisation of optometry whose objective is to improve and preserve visual function to increase sports performance. The main objective of the present study was to compare the visual expertise of non-athletes to skeet shooting athletes. Methods: Participants underwent an optometric assessment in which all those with severe deviations from normal vision, after compensating for visual abnormalities, were eliminated. After that, the following six visuospatial components were measured: hand–eye coordination, peripheral awareness, fixation disparity, saccadic eye movements, speed of recognition and visual memory. To measure the aforementioned components, the following tests were used: directional arrows, similar and different characters, the dichromatic disparity test, character marking, a tachistoscopic test and tic-tac-toe using COI-vision software. Results: Skeet shooting athletes performed significatively better (p ≤ 0.05) in two out of the six tests: hand–eye coordination and visual memory. Conclusions: Although this study does not support the theory that athletes—in this case, skeet shooting athletes—perform significantly better in most components of the visuospatial tests, visual memory and hand–eye coordination are exceptions. To be more accurate in distinguishing between athletes and non-athletes, specific testing methods that can be used by a wide variety of disciplines should be developed. Training the weakest aspects of athletes can improve their sports performance.

Atlanto-Occipital Decompression of Vertebral Artery for a Variant of Bow Hunter's Syndrome: 2-Dimensional Operative Video

Rotational vertebral artery (VA) occlusion syndrome, also known as bow hunter's syndrome, is an uncommon variant of vertebrobasilar insufficiency typically occurring with head rotation.1-3 The most common presenting symptom is dizziness (76.8%), followed by visual abnormalities and syncope (50.4% and 40.4%, respectively).2 Osteophytic compression due to spinal spondylosis has been shown to be the most common etiology (46.2%), with other factors, such as a fibrous band, muscular compression, or spinal instability, being documented.1,2 Treatment is dependent on the level and site of VA compression with anterior, anterolateral, or posterior approaches being described.1,4 We present the case of a 72-yr-old male with osteophytic compression of the V3 segment of the vertebral artery at the occipital-cervical junction. The patient underwent a C1 hemilaminectomy and removal of osteophytic compression from the occipital-cervical joint. The patient had complete resolution of compression of his vertebral artery on postoperative imaging and remained neurologically intact following the procedure. We review the literature on this topic, the technical nuances of the procedure performed, and review the different treatment modalities available for this rare condition.1-11 The patient consented to the procedure and to publication of their image.

Posterior reversible encephalopathy syndrome due to hypercalcaemia: a rare cause

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity described by Hinchey et al in late 90’s, characterised by variable associations of seizure activity, consciousness impairment ranging from confusion to coma, headaches, visual abnormalities, nausea/vomiting and focal neurological signs. Common causes are accelerated hypertension, eclampsia, preeclampsia, cytotoxic drug use and autoimmune diseases like systemic lupus erythematosus.We report a case of PRES in a 62-year-old female patient due to hypercalcemia secondary to vitamin D toxicity on treatment with calcium supplements and vitamin D for secondary hypoparathyroidism. She had seizures and visual defects on presentation which recovered completely with treatment of hypercalcemia.